Health topics
Rare diseases
Discover selected uncommon genetic and immune-mediated conditions.
Overview
About rare diseases
Rare-disease definitions differ by region, and a condition can be uncommon in one population while more frequent in another. This collection focuses on several uncommon disorders represented in the Health library, with links to their individual evidence-based references.
Rare genetic and metabolic conditions
4 references
22q11.2 deletion syndrome (DiGeorge syndrome)
Explore symptoms, diagnosis, care and cited clinical information in the full condition article.
Gaucher disease
Condition→Gaucher diseaseInherited GBA1 lysosomal storage disease with splenic, hepatic, blood, skeletal and sometimes neurologic involvement.
Acrodermatitis enteropathica
Explore symptoms, diagnosis, care and cited clinical information in the full condition article.
Huntington disease
Explore symptoms, diagnosis, care and cited clinical information in the full condition article.
Rare immune-mediated disease
1 reference
For diagnosis, treatment information and clinical sources, see the individual condition references. This page is a topical directory, not a clinical care guide.